An online survey of 102 questions was carried out in late June to early August 2020. The survey was open to anyone aged 18 or over who considered that they, or the person they care for, has a rare, genetic or undiagnosed condition. The link to the survey was shared widely across Genetic Alliance UK’s networks, including to supporters of our Rare Disease UK campaign and membership of the SWAN UK (syndromes without a name) support group for families with children with undiagnosed conditions.

In total there were 1,020 eligible responses: exclusions were for those outside the UK, those who had not given consent and those who completed less than three quarters of the survey. The questions were based on previous surveys undertaken by Genetic Alliance UK, other patient experience surveys (such as the NHS England Cancer Patient Experience Survey), other relevant studies (such as the CONCORD study focussing on care coordination) and the anticipated focus of the expected UK Framework for Rare Diseases. The survey was hosted online using the SurveyMonkey platform and the raw data was then imported into SPSS where the data was cleaned (respondents excluded as outlined above) and descriptive statistics were produced.

Just under 300 different rare / genetic conditions are represented in the survey, with around 190 only being mentioned by one respondent while 18 conditions were mentioned by nine or more respondents. About 10% of respondents (90) mentioned living with more than one rare condition.

Following the survey, two online workshops took place with respondents who had completed the survey and indicated that they would be interested in taking part in workshops related to the survey. The workshop participants came from all four UK nations and represented both carers and people with a rare or undiagnosed condition. The findings from the four main sections of the report were presented and then discussed with the participants. The outputs from the workshops are also included within the report findings.

The survey was broken down into several sections: demographics of the person answering the survey (and the person cared for if a carer was answering the survey), details about the rare / undiagnosed condition, the search for a diagnosis, information and awareness about their condition, coordination of care, access to specialist care and treatments, experiences related to research and use of technology and overall experiences of care. An additional section was added to the end of the survey concerning experiences due to Covid-19, the findings from this work will be published elsewhere. In each section there were fixed response questions as well as open ended questions; quotes have been taken from these questions throughout the report.

The quantitative data in the report has on occasion been broken down for analysis purposes. Breakdowns include whether the person living with the condition is a child or adult, how long ago the person was diagnosed (if they have a definitive diagnosis) and the complexity of the condition. The complexity of someone’s condition was defined by how many different aspects of health were affected by the rare or undiagnosed condition; this was then grouped into five categories – 1 or fewer aspects of health affected, 2-3 aspects, 4-5 aspects, 6-7 aspects and 8 or more aspects of health affected.

The survey was answered more often by women (847 – 83%) than men (162 – 16%), a small proportion of respondents said either ‘other’ or ‘prefer not to say’ while some skipped this question. People living with a condition made up 82% of the respondents while the other 18% were carers.